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Article

Mutation of the ectodysplasin-A gene results in bone defects in mice.

Journal of comparative pathology - 1 Jan 2000

Hill N L, Laib A, Duncan M K

Abstract excerpt

Anhidrotic ectodermal dysplasia (EDA) is an X-linked, recessive genetic disease characterized by dysfunctional sweat glands, poorly developed teeth, and premature balding in human beings. This disorder results from mutations in the gene for ectodysplasin-A, a type II transmembrane protein with tumour necrosis factor-alpha domains. An animal model of EDA, the Tabby mouse, also has mutations in the ectodysplasin-A...

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Source

Identifiers

PMID: 11945012
DOI: 10.1053/jcpa.2001.0531

Genes

EDA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Mutation of the ectodysplasin-A gene results in bone defects in mice.PMID 11945012Read ↗

The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains.Semantic proximity Read ↗

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The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.Semantic proximity Read ↗

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